InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC22A5

Summary

InnateDB Protein

IDBP-376256.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC22A5

Protein Name

solute carrier family 22 (organic cation/carnitine transporter), member 5

Synonyms

CDSP; OCTN2; OCTN2VT;

Species

Homo sapiens

Ensembl Protein

ENSP00000402760

InnateDB Gene

IDBG-41977 (SLC22A5)

Protein Structure

UniProt Annotation

Function

Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3. {ECO:0000269PubMed:10454528}.

Subcellular Localization

Membrane {ECO:0000269PubMed:10679939}; Multi-pass membrane protein {ECO:0000269PubMed:10679939}.

Disease Associations

Systemic primary carnitine deficiency (CDSP) [MIM:212140]: Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. {ECO:0000269PubMed:10072434, ECO:0000269PubMed:10425211, ECO:0000269PubMed:10480371, ECO:0000269PubMed:10545605, ECO:0000269PubMed:10612840, ECO:0000269PubMed:10679939, ECO:0000269PubMed:11058897, ECO:0000269PubMed:11715001, ECO:0000269PubMed:15617188, ECO:0000269PubMed:15714519, ECO:0000269PubMed:17126586, ECO:0000269PubMed:20027113, ECO:0000269PubMed:20074989, ECO:0000269PubMed:20574985, ECO:0000269PubMed:21922592}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells. {ECO:0000269PubMed:10454528}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0015075	ion transmembrane transporter activity
GO:0015226	carnitine transmembrane transporter activity
GO:0015238	drug transmembrane transporter activity
GO:0015293	symporter activity
GO:0015651	quaternary ammonium group transmembrane transporter activity
GO:0022857	transmembrane transporter activity
GO:0030165	PDZ domain binding

Biological Process

GO:0006814	sodium ion transport
GO:0006855	drug transmembrane transport
GO:0015697	quaternary ammonium group transport
GO:0015879	carnitine transport
GO:0015893	drug transport
GO:0034220	ion transmembrane transport
GO:0052106	quorum sensing involved in interaction with host
GO:0055085	transmembrane transport
GO:0060731	positive regulation of intestinal epithelial structure maintenance
GO:0070715	sodium-dependent organic cation transport
GO:1902603	carnitine transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0031526	brush border membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR004749 Organic cation transport protein
IPR005828 General substrate transporter
IPR011701 Major facilitator superfamily
IPR016196 Major facilitator superfamily domain, general substrate transporter
IPR020846 Major facilitator superfamily domain

PFAM

PF00083
PF07690

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O76082

PhosphoSite